Linked Data
ClinVar Variation Id:
919576
ClinVar RCV Id:
RCV001177816
dbSNP Id:
rs778947597
gnomAD v3:
11-47342750-C-CGGGT
gnomAD v4:
11-47342750-C-CGGGT
MyVariant Identifiers:
chr11:g.47364301_47364302insGGGT (hg19)
chr11:g.47342750_47342751insGGGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47342761_47342764dup , CM000673.2:g.47342761_47342764dup | GRCh38 |
| NC_000011.9:g.47364312_47364315dup , CM000673.1:g.47364312_47364315dup | GRCh37 |
| NC_000011.8:g.47320888_47320891dup | NCBI36 |
| NG_007667.1:g.14949_14952dup , LRG_386:g.14949_14952dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.1458-10_1458-7dup MANE Select | ENSP00000442795.1:n.1458-10_1458-7dup | |
| ENST00000256993.8:c.1458-10_1458-7dup | ENSP00000256993.5:n.1458-10_1458-7dup | |
| ENST00000399249.6:c.1458-10_1458-7dup | ENSP00000382193.2:n.1458-10_1458-7dup | |
| ENST00000544791.1:c.1458-10_1458-7dup | ENSP00000444259.1:n.1458-10_1458-7dup | |
| ENST00000545968.5:c.1458-10_1458-7dup | ENSP00000442795.1:n.1458-10_1458-7dup | |
| NM_000256.3:c.1458-10_1458-7dup , LRG_386t1:c.1458-10_1458-7dup MANE Select | NP_000247.2:n.1458-10_1458-7dup | |
| XM_011520117.1:c.1440-10_1440-7dup | XP_011518419.1:n.1440-10_1440-7dup | |
| XM_011520118.1:c.1458-10_1458-7dup | XP_011518420.1:n.1458-10_1458-7dup |